Faculty of Pharmacy of Monastir, Research Unit of Biology and Genetics of Cancer, Haematological and Autoimmune Diseases, Monastir, 5000, Tunisia.
J Thromb Thrombolysis. 2010 Jan;29(1):114-8. doi: 10.1007/s11239-009-0336-0.
Despite extensive exploration of many genes, strong evidence of a molecular genetic association with coronary heart disease (CHD) or myocardial infarction (MI) remains to be obtained. Recently, significant interest has emerged in mapping genetic susceptibility for complex traits through whole-genome studies association generating promoting data that will determine the genetic contribution to common human diseases such as coronary heart disease. The aim of the present case-control study including 324 healthy controls and 296 patients with coronary heart disease from Tunisia, was to assess relation between three polymorphisms previously reported to be strongly associated with coronary heart disease in the Welcome Trust Case Control Consortium (WTCCC) and the German myocardial infarction family studies: locus 9p21.3 (rs 1333049), locus 6q25.1 (rs6922269) and 2q36.3 (rs2943634). By single locus analysis, no differences in genotype distribution and allelic frequency were found between the two groups of study. The risk allele (C) for rs2943634 was less frequent among Tunisian population than in controls from the WTCCC and German studies (57% vs 65%). The three SNPs previously reported to be associated with CHD were not replicated in our small sample.
尽管对许多基因进行了广泛的探索,但仍需要获得与冠心病 (CHD) 或心肌梗死 (MI) 具有强烈分子遗传关联的有力证据。最近,人们对通过全基因组研究关联来绘制复杂性状的遗传易感性产生了浓厚的兴趣,这将为冠心病等常见人类疾病的遗传贡献提供数据。本病例对照研究包括 324 名健康对照者和 296 名来自突尼斯的冠心病患者,目的是评估之前在惠康信托基金病例对照联盟 (WTCCC) 和德国心肌梗死家族研究中与冠心病强烈相关的三个多态性与三个多态性之间的关系:9p21.3 基因座 (rs1333049)、6q25.1 基因座 (rs6922269) 和 2q36.3 基因座(rs2943634)。通过单基因座分析,两组研究之间基因型分布和等位基因频率无差异。与 WTCCC 和德国研究中的对照组相比,rs2943634 的风险等位基因 (C) 在突尼斯人群中较不常见(57%比 65%)。之前报道与 CHD 相关的三个 SNP 未在我们的小样本中得到复制。